Trisomy X: Difference between revisions
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* '''A case-control study of brain structure and behavioral characteristics in 47,XXX syndrome'''<ref name=PMID25287572><pubmed>25287572</pubmed></ref> "MRI scans were obtained on 35 girls with Trisomy X (mean age 11.4, SD 5.5) and 70 age- and sex-matched healthy controls. Cognitive and behavioral testing was also performed. Trisomy X girls underwent a semi-structured psychiatric interview. Regional brain volumes and cortical thickness were compared between the two groups. Total brain volume was significantly decreased in subjects with Trisomy X, as were all regional volumes with the exception of parietal gray matter. Differences in cortical thickness had a mixed pattern. The subjects with Trisomy X had thicker cortex in bilateral medial prefrontal cortex and right medial temporal lobe, but decreased cortical thickness in both lateral temporal lobes. The most common psychiatric disorders present in this sample of Trisomy X girls included anxiety disorders (40%), attention-deficit disorder (17%) and depressive disorders (11%). The most strongly affected brain regions are consistent with phenotypic characteristics such as language delay, poor executive function and heightened anxiety previously described in population-based studies of Trisomy X and also found in our sample." | |||
* '''A review of trisomy X (47,XXX)'''<ref name=PMID20459843><pubmed>20459843</pubmed></ref> "Trisomy X is a sex chromosome anomaly with a variable phenotype caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). It is the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births." | |||
* ''' Root length in the permanent teeth of women with an additional X chromosome (47,XXX females)'''<ref name=PMID20568965><pubmed>20568965</pubmed></ref> "Increased enamel thickness in the teeth of 47,XXX females is apparently caused by the active enamel gene in all X chromosomes having no increased influence on crown dentin formation. These results in 47,XXX females indicate an increase in root dentin development, at least in the mandible, which together with the data on crown formation reflects a continuous long-lasting effect of the X chromosome on dental development." | * ''' Root length in the permanent teeth of women with an additional X chromosome (47,XXX females)'''<ref name=PMID20568965><pubmed>20568965</pubmed></ref> "Increased enamel thickness in the teeth of 47,XXX females is apparently caused by the active enamel gene in all X chromosomes having no increased influence on crown dentin formation. These results in 47,XXX females indicate an increase in root dentin development, at least in the mandible, which together with the data on crown formation reflects a continuous long-lasting effect of the X chromosome on dental development." | ||
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Revision as of 23:23, 24 November 2014
Embryology - 24 Apr 2024 Expand to Translate |
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Introduction
Trisomy X is a caused by the presence of an extra X chromosome in females (47,XXX instead of 46,XX). This is also the most common female chromosomal abnormality, occurring in approximately 1 in 1,000 female births.
Other abnormalities of chromosome number include: female tetrasomy X (quadruple X, or 48, XXXX) a rare chromosomal disorder and male Klinefelter syndrome, the presence of an additional X chromosome (47, XXY or XXY).
- Alternative names: Triplo X syndrome, Trisomy X, 47,XXX, XXX syndrome
| Genital System - Abnormalities
Some Recent Findings
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More recent papers |
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This table allows an automated computer search of the external PubMed database using the listed "Search term" text link.
More? References | Discussion Page | Journal Searches | 2019 References | 2020 References Search term: Trisomy X <pubmed limit=5>Trisomy X</pubmed> |
Prenatal Diagnosis
Trisomy X Karyotype[5]
The most common prenatal diagnosis is by either amniocentesis or chorionic villi sampling.
Physical Features
Feature | Estimated frequency based on current available data |
Tall stature >75th percentile | 80 - 89 % |
Epicanthal folds | 32 - 46 % |
Clinodactyly | 42 - 65 % |
Hypotonia in infancy | 55 - 71 % |
Genitourinary malformations | 5 - 16 % |
Seizure disorder | 11 - 15 % |
Intention tremor | 6 - 20 % |
Congenital hip dysplasia | 2 - 12 % |
Constipation/Abdominal pains | 12 - 45 % |
Premature ovarian failure | unknown |
Table data from Tartaglia NR, etal., 2010[3]
References
- ↑ <pubmed>23162306</pubmed>| Indian J Hum Genet.
- ↑ <pubmed>25287572</pubmed>
- ↑ 3.0 3.1 <pubmed>20459843</pubmed>
- ↑ <pubmed>20568965</pubmed>
- ↑ 22346085</pubmed>| J Hum Reprod Sci.
Reviews
<pubmed>20459843</pubmed> <pubmed>17062147</pubmed>
Articles
<pubmed>19732877</pubmed> <pubmed>7815443</pubmed> <pubmed>1155452</pubmed> <pubmed>14452136</pubmed>
Search PubMed
Search Pubmed: Trisomy X
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- Genetics Home Reference triple X syndrome
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Cite this page: Hill, M.A. (2024, April 24) Embryology Trisomy X. Retrieved from https://embryology.med.unsw.edu.au/embryology/index.php/Trisomy_X
- © Dr Mark Hill 2024, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G